HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31660169_31660171del , CM000683.2:g.31660169_31660171del | GRCh38 |
NC_000021.8:g.33032482_33032484del , CM000683.1:g.33032482_33032484del | GRCh37 |
NC_000021.7:g.31954353_31954355del | NCBI36 |
NG_008689.1:g.5548_5550del , LRG_652:g.5548_5550del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270142.11:c.72+328_72+330del MANE Select | ENSP00000270142.7:n.72+328_72+330del | |
ENST00000270142.10:c.72+328_72+330del | ENSP00000270142.6:n.72+328_72+330del | |
ENST00000389995.4:c.15+385_15+387del | ENSP00000374645.4:n.15+385_15+387del | |
ENST00000470944.1:n.461_463del | ||
ENST00000476106.5:n.149+328_149+330del | ||
NM_000454.4:c.72+328_72+330del , LRG_652t1:c.72+328_72+330del | NP_000445.1:n.72+328_72+330del | |
NM_000454.5:c.72+328_72+330del MANE Select | NP_000445.1:n.72+328_72+330del |